What is Bethlem Myopathy?
Bethlem myopathy is a rare disease affecting the connective tissues and the skeletal muscles causing muscular tissue weakness and joint stiffness . Bethlem myopathy is a muscle disorder stipulation . It is a transmissible condition and it is nominate after the Dutch Doctor Bethlem and van Jijngaarden , who first described the condition in 1976 . Bethlem myopathy is a type of innate brawny dystrophy disease , though it is less severe and tedious progressing as compare to other mesomorphic muscular dystrophy condition .
The disease presents with mild clinical symptom with proximal muscle helplessness along with early contractures in the fingers . The absence of cardiomyopathy and pseudohypertrophic calf are the typical features of Bethlem myopathy . The oncoming of the disease can occur at any time in a person ’s life , including in vitro as well . The gene responsible for for this status are all associated with collagen type IV in the body . These include the COL6A1 , COL6A2 , or the COL6A3 genes .
Cause of Bethlem Myopathy
The primary cause of Bethlem myopathy is mutation in one of the collagen type IV cistron . These are call COL6A1 , COL6A2 , and COL6A3 . Mutation results in production of either abnormal collagen case IV protein or it lowers the story of collagen IV protein in the body . As collagen is the basal protein of connective tissue paper and it provides reenforcement for the muscle cells , Bethlem myopathy touch the muscles in the soundbox .
The exact reason why these genetic chromosomal mutation come about in the eubstance and moderate to the disease is not altogether understood . However , the muscle cubicle of people sustain from Bethlem myopathy are more sensitive to cell death cause variety in the mitochondria , which is the energy supplying part of the cell .
Inheritance of Bethlem Myopathy
Bethlem myopathy is generally an inherited disease . It is know to be ‘ autosomal dominant ’ , meaning that one transcript of the mutated gene , inherited from any parent , is enough to give rise to the disease . There is a 50 percentage probability that the children of a person suffering from Bethlem myopathy will also inherit the condition . However , some mass are diagnosed with Bethlem myopathy and neither of the parent seem to be have it . This have in mind that the parents could be involve so gently that they never realized that they have the experimental condition . It could also intend that the gene mutation has occurred for the first time in the affected soul .
Symptoms of Bethlem Myopathy
People suffering from Bethlem myopathy experience slowly progressing brawniness weakness and also develop joint stiffness in their wrists , elbow , digit , and ankles . This type of rigour can restrict campaign . The inclemency of symptoms varies from individual to person and as with the disease , can appear at any age .
Initial symptom of Bethlem myopathy can present at any time from birth to adulthood to even in vitro . The symptoms are very varying . For most patients with impuissance and contractures , the symptom of Bethlem myopathy that attach to the disease are cognise to become worse with age . However , this happens very slowly and change from person to person . Many adult go through their life being unaware of any sinew weakness or experience only slight contractures . While some need to apply equipment to persist mobile such as a cane , wheelchair , or crutch .
Symptoms of Bethlem myopathy during childhood , symptom can award as hypotonicity ( floppiness of muscle ) , joint remissness , delayed motor milestones in a infant , muscle weakness , club foot or taipes , stiffness in the neck sleep together as torticollis , etc . Contractures ( parsimony ) can also occur in the hip , knee joint , ankles , and elbows . The contracture change from patient role to patient and can also come and go over a period of time . Stiffness of the thorn is also be intimate to develop over the years .
If symptoms of Bethlem myopathy present during maturity then patients can have tight tendons at the back of their ankles along with muscle tightness of other joint such as knees , elbows , and the join in the back . Muscles in the hands are also particularly affected . Contractures of the digit muscles is a typical symptom of Bethlem myopathy .
Other symptoms of Bethlem myopathy can admit :
Muscles used for breathing are not affected much by this disease and thus , breathing problems are very rare . The heart muscle is also not generally impress .
As collagen character IV is found in the skin , symptom of Bethlem myopathy are also get word on the skin . The outer surfaces of the arms and legs can feel dry or rough to touch . This is known as keratosis pilaris . Some may discover that they scar in an unusual manner . They may find that the scars either form keloids , which are raised and rather tempestuous await scars , or they may also have sparse , silvern ‘ fag - corresponding ’ newspaper cicatrix .
Other symptom of Bethlem myopathy mild failing in the proximal and extensor muscles can give salary increase to limited operative disability . Serum creatine kinase action has been found to remain normal or more or less elevated . Muscle biopsy has indicate non - specific myopathic changes in patients suffer from Bethlem myopathy . In child presenting with Bethlem myopathy , creatin kinase action has been find to be extremely elevated , sometimes even up to 15 time the upper limit of the normal value .
Diagnosis of Bethlem Myopathy
Diagnosis of Bethlem myopathy is by and large suspected from medical history and a physical examen . The literal diagnosing is carried out by reckon at a particular muscle set or skin through muscle and peel biopsy .
A muscle biopsy involves take a minor piece of muscle , generally from the thigh . Before going ahead with a muscularity biopsy , some other tests may also be carried out that helper in diagnosing of Bethlem myopathy . These admit a blood test that measure the level of the protein creatine kinase ( CK ) . In someone suffering from Bethlem myopathy , the degree of creatine kinase is only slenderly elevated .
Muscle ultrasound can also discover change in the muscular tissue and provide an indication of the overall muscle consideration . An echography can provide further grounds of the extent of musculus involvement .
heftiness biopsy is a way of reaching a precise diagnosing . This can be done in the following ways :
Signs and symptom that may indicate a muscle precondition can be observed under a microscope . Muscle fiber of people suffering from brawny dystrophy will not be evenly sized and some of these fibers may also be supersede by fibrous tissue paper and/or fat .
A biopsy makes it possible to value the amount of collagen eccentric IV protein that is present in the muscle . This can be seen under the microscope using specific smear to play up the presence of this protein .
Skin biopsy may also aid in the diagnosis of Bethlem myopathy as collagen case IV is usually present in both muscle and skin . In many showcase , it becomes easy to observe a reduction of the collagen IV protein by front at hide cells rather than heftiness cells . However , a skin biopsy can not allow some of the information that a muscleman biopsy can and therefore , most Dr. prefer to conduct both muscle and skin biopsy to obtain the right entropy required for diagnosing .
familial tests that look for irregularity in one of the three gene in which mutation leads to Bethlem myopathy are also available now and can also provide a clear diagnosis .
Other tryout that aid in the diagnosis of Bethlem myopathy admit :
Treatment of Bethlem Myopathy
There is specific discussion of Bethlem myopathy . There are only ways to alleviate the effects of the condition and prevent any further complication . medication based on the severity , may be give as intervention of Bethlem myopathy .
If you are going to a brawn clinic , then they will a close check on your joints and mobility . Together with your physiotherapy team , you may act to debase loaded junction and maintain the tractability and pliantness of your muscle . Some mass may also need surgery to relinquish the Achilles tendon . This can help oneself a individual to stand and take the air more easily .
Both children and adults suffering from Bethlem myopathy are notify to remain fighting and manage their weights as an important part of treatment of Bethlem myopathy . Being overweight will further increase the strain on the muscles . sanative exercises , physical therapy , right nutrition and equal rest can help in muscle haunt , which can help relieve some symptoms of Bethlem myopathy .
